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2023-06-28
What is Newborn Screening?
Neonatal disease screening refers to finding out children who may be sick among all seemingly healthy newborns through some quick and simple screening methods. Neonatal disease screening means timely diagnosis, treatment and care for patients!
What is the origin of International Newborn Screening Day?
International Newborn Screening Day (INSD) is jointly sponsored by the International Society for Newborn Screening (ISNS), the International Organization of Patients with Primary Immunodeficiency (IPOPI) and the European Society for Immunodeficiency (ESID) under the initiative of Screen4Rare to jointly promote newborns. The importance of newborn screening and launched the first International Newborn Screening Day (INSD) on June 28, 2021.
Why is International Newborn Screening Day on June 28?
June 28 is the birthday of Dr. Robert Guthrie/Professor Robert Guthrie (June 28, 1916 – June 24, 1995), the microbiologist who introduced dried blood in the United States in the 1960s Filter discs and a new test to screen for phenylketonuria (PKU) in newborns, a technology that kicks off newborn screening.
Among Dr. Guthrie's lifetime contributions, especially the paper blood spot cards, now commonly used in all screening programs, revolutionized the detection of children with congenital disorders, thereby improving children's health. Professor Guthrie dedicated her life to raising awareness of the importance of newborn screening to expedite diagnosis and treatment.
What is the purpose of International Newborn Screening Day?
On June 28, we celebrated the life-changing benefits of newborn screening in detecting disease early and the opportunities it provides in terms of early access to treatment. We want INSD to be a real catalyst, raising awareness of the value of newborn screening and encouraging collaboration and innovative practice among all relevant stakeholders, including screening specialists, patients, scientists, healthcare professionals, policy makers and industry in order to:
Raise awareness of the critical role of newborn screening in accessing timely treatment and saving lives.
Mechanisms to support the exchange of information, data and expertise on newborn screening.
Consider scientific advances in screening programs.
Uni-medica helps newborn screening for inherited metabolic diseases
Uni-medica “Babyhealth” utilizes the patented “All-in-one” multiplex PCR amplicon library preparation technology and NGS technology. It performs exonic regions sequencing and analysis of more than 130 genes related to more than 120 metabolic and genetic diseases through heel blood.
The test is indicated for newborns and children. Offers early screening for genetic diseases that appear during the first stages of life, providing key information for preventive management, diet for early treatment. Early detection, intervention and management could prove essential for the infant’s overall health and quality of life.
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